Variant information



Systematic Name c.753_754dup
Protein name p.Gly252fs
Mutation type frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.753_754dup p.Gly252fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-classical 6667